A3243G-F50

**Figure 1\. Pedigree diagram for family A3243G\-F50\.**

![](/media/202607/A3243G-F50-pedigree_20260701031439785758.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3243 | m.3243A\>G | A3243G\-F50 | USA | MELAS | 8 | 1 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Fig.2 pedigree B; includes target\-positive asymptomatic maternal\-line relatives and untested children of B\-II5\. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F50 from USA with melas. The pedigree record reported 8 unaffected and 1 affected maternal relatives, and the carrier table includes 10 listed carriers. Homoplasmy was reported in 0/10 listed carriers; 2/10 carriers were affected, and the main clinical manifestation among affected carriers was melas, oligosymptomatic relative.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P1 | Fam | F | N | N | ND | 64 | 0 | 55% | / | / | Healthy | Fig.2/Table2 patient41; blood negative but branch has independent positive descendants; Asymptomatic relative |
| 2 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P2 | Fam | M | N | N | ND | 41 | 30% | 53% | / | / | Healthy | Fig.2/Table2 patient37; Asymptomatic relative |
| 3 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P3 | Fam | F | N | N | ND | 39 | 40% | 78% | / | / | Healthy | Fig.2/Table2 patient38; Asymptomatic relative |
| 4 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P4 | Fam | M | Y | Y | ND | 48 | 75% | 94% | / | / | MELAS | Table1 patient3; Fig.2 B\-III4\. |
| 5 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P5 | Fam | F | N | Y | ND | 14 | 69% | / | / | / | Oligosymptomatic relative | Fig.2/Table2 patient26\. |
| 6 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P6 | Fam | F | N | N | ND | 30 | 28% | / | / | / | Healthy | Fig.2/Table2 patient39; Asymptomatic relative |
| 7 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P7 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother B\-II5 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 8 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P8 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother B\-II5 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 9 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P9 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother B\-II5 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 10 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P10 | Fam | F | N | N | ND | 25 | 52% | 74% | / | / | Healthy | Fig.2/Table2 patient40; Asymptomatic relative |

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